The purpose of this review is to report the personal experience on growth and pubertal development in a large number of thalassaemic and ex-thalassaemic patients followed at the Pediatric and Adolescent Unit of Ferrara. Secondary amenorrhoea (SA), hypogonadism and short stature are the commonest endocrine and auxological complications. The anterior pituitary gland is particularly sensitive to free radical oxidative stresses and exposure to this. Magnetic resonance imaging (MRI) shows that even a modest amount of iron deposition within the anterior pituitary can interfere with its function. Other possible cause of hypogonadism in β-thalassaemia major include liver disorders, chronic hypoxia, diabetes mellitus and zinc deficiency. The treatment of pubertal disorders consists of hormone replacement therapy with sex steroids. Successful induction of spermatogenesis and ovulation has been reported after hormonal stimulation with gonadotrophins. Height above the 10th centile was achieved in 50% of males and 64% of females. Eight prepubertal thalassaemic patients, 6 males and 2 females, ranging in age from 8.6 to 11.7 years, were treated with GH. After the first 12 months of GH treatment a significant increase of growth velocity was observed in 6 patients who doubled growth velocity before basal value (4 cm or more above the basal value), 2 patients had a partial response (2–4 cm above the basal value). In the following 3 years all thalassaemic patients had a partial response to the treatment with GH. These data indicate that despite somewhat reduced sensitivity to GH, compared to GH deficiency children, there is evidence indicating that thalassaemic patients may benefit from GH treatment. Sixty-eight thalassaemic patients (30 males and 38 females) who had successfully undergone bone marrow transplantation (BMT) during childhood were studied. Following BMT growth rate decelerated when compared to Tanner and Whitehouse standards. Twenty-nine ex-thalassaemics reached final height. The patterns of growth during puberty was variable in ex-thalassaemic males, while in all but 3 ex-thalassaemic females we observed an improvement in the percentile of standing height. A gonadal dysfunction was found in 68% of ex-thalassaemic patients. Since the quality of life of these patients is an important aim, it is vital to monitor carefully the growth and pubertal development in order to detect abnormalities and to initiate appropriate and early treatment.

1.
Bannermann RM, Keusch G, Kreimer-Birnbaum M, Vance VK, Vaughan S: Thalassaemia intermedia with iron overload, cardiac failure, diabetes mellitus, hypopituitarism and porphyrinuria. Am J Med 1967;42:476–486.
2.
Kuo B, Zaino E, Roginski MS: Endocrine function in thalassemia major. J Clin Endocrinol Metab 1968;28:805–808.
3.
Canale V, Steinherz M, New M, Erlandson M: Endocrine function in thalassemia major. Ann NY Acad Sci 1974;232:333–345.
4.
Flynn DM, Fairmen A, Jackson D, Clayton BE: Hormonal changes in thalassemia major. Arch Dis Child 1976;51:828–836.
5.
Economidou J: Problems related to treatment of β-thalassemia major. Paediatrician 1982;11:157–177.
6.
Italian Working Group on Endocrine Complications in Non-endocrine Diseases: Multicentre study on endocrine complications in thalassemia major. Clin Endocrinol 1995;42:581–586.
7.
Iancu TC: Biological and ultrastructural aspects of iron overload. An overview. New York, Hemisphere, 1990, pp 1–251.
8.
De Sanctis V, Vullo C, Katz M, Wonke B, Tanas R, Bagni B: Gonadal function in patients with β-thalassemia major. J Clin Pathol 1988;41:133–137.
9.
De Sanctis V, Vullo C, Katz M, Wonke B, Hoffbrand AV, Bagni B: Hypothalamic-pituitary-gonadal axis in thalassemic patients with secondary amenorrhea. Obstet Gynecol 1988;72:643–647.
10.
Costin G, Kogut MD, Hyman CB, Ortega JA: Endocrine abnormalities in thalassemia major. Am J Dis Child 1979;133:497–502.
11.
Berchovitch M, Bistritzer T, Milone SD, Perlman K, Kucharczyk W, Olivieri NF: Iron deposition in anterior pituitary in homozygous β-thalassemia: MRI evaluation and correlation with gonadal function. J Clin Pediatr Metabol 2000;13:179–184.
12.
De Sanctis V, Savarino L, Stea S, Cervellati M, Ciapetti G, Tassinari L, Pizzoferrato A: Microstructural analysis of severe bone lesions in seven thalassemic patients treated with deferoxamine. Calcif Tissue Int 2000;67:128–133.
13.
De Sanctis V, Stea S, Savarino L, Granchi D, Visentin M, Govoni R, Pizzoferrato A: Osteochondrodystrophic lesions in chelated thalassemic patients: A histological analysis. Calcif Tissue Int 2000;67:134–140.
14.
Mangiagli A, De Sanctis V, Campisi S, Di Silvestro G, Urso L: Treatment with desferiprone (L1) in a thalassemic patient with bone lesions due to desferrioxamine. J Pediatr Endocrinol Metab 2000;13:677–680.
15.
De Sanctis V, Urso L: Clinical experience with growth hormone treatment in patients with β-thalassemia major. Biodrugs 1999;11:79–85.
16.
Sabato A, De Sanctis V, Atti G, Capra L, Bagni B, Vullo C: Primary hypothyroidism and the low T3 syndrome in thalassemia major. Arch Dis Child 1983;58:120–127.
17.
Borgna-Pignatti C, Marradi PL, Marcolongo A: Successful pregnancy in a woman after bone marrow transplantation for thalassaemia. Bone Marrow Transplant 1996;18:235–236.
18.
De Sanctis V, Galimberti M, Lucarelli G, Polchi P, Ruggiero L, Vullo C: Gonadal function after allogenic bone marrow transplantation for thalassemia. Arch Dis Child 1991;66:517–521.
19.
De Sanctis V, Galimberti M, Lucarelli G, Angelucci E, Ughi M, Baronciani D, Polchi P, Giardini G, Bagni B, Vullo C: Pubertal development in thalassemic patients after allogenic bone marrow transplantation. Eur J Pediatr 1993;152:993–997.
20.
Revel A, Davis VJ, Casper RF: Ovarian cortex cryopreservation in pediatric and adolescent medicine. J Pediatr Adolesc Gynecol 2000;13:95.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.